Downslanted palpebral fissures, and Difficulty walking

Diseases related with Downslanted palpebral fissures and Difficulty walking

In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Difficulty walking that can help you solving undiagnosed cases.

Top matches:

URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

Other less relevant matches:

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

Cohen-Gibson syndrome is an overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. Other features may include hypotonia, difficulty walking due to skeletal anomalies, and umbilical hernia (summary by Cooney et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about COHEN-GIBSON SYNDROME; COGIS

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.

CRI-DU-CHAT SYNDROME Is also known as cat cry syndrome|chromosome 5p deletion syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRI-DU-CHAT SYNDROME

NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Difficulty walking

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Downslanted palpebral fissures and Difficulty walking. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Delayed speech and language development High palate Abnormal facial shape Seizures Scoliosis Hypertelorism Strabismus Flexion contracture Talipes equinovarus Absent speech Gait ataxia Short stature Myopia Ventriculomegaly Drooling Cerebellar atrophy Stereotypy Neonatal hypotonia Pes planus Pes cavus Dystonia Hypertonia Hypoplasia of the corpus callosum Overgrowth Wide nasal bridge Nystagmus Cleft palate Clinodactyly Abnormality of the skeletal system Motor delay Cryptorchidism Feeding difficulties Long philtrum Epicanthus

Rare Symptoms - Less than 30% cases

Hallucinations Deeply set eye Wide mouth Camptodactyly Babinski sign Astigmatism Bifid uvula Intellectual disability, severe Wide intermamillary distance Round face Spastic paraplegia Anxiety Failure to thrive Hyperreflexia Muscle weakness Frequent falls Muscular hypotonia Dysarthria Short philtrum Talipes Poor speech Dysphagia Hypospadias Cataract Ptosis Abnormality of the pinna Choreoathetosis Single transverse palmar crease Mild microcephaly Facial hypotonia Paraplegia Respiratory distress Narrow face Hernia Amblyopia Waddling gait Bulbous nose Patent ductus arteriosus Optic atrophy Spastic dysarthria Growth delay Slender build Posteriorly rotated ears Retrognathia Hyperlordosis Joint laxity Kyphoscoliosis Macrotia Cerebral cortical atrophy Upslanted palpebral fissure Arachnodactyly Mitral regurgitation Prominent nose Ataxia Frontal bossing Macrocephaly Cognitive impairment Prominent nasal bridge Kyphosis Long face Prominent supraorbital ridges Abnormal cerebellum morphology Long fingers Large hands Long foot Tall stature Preauricular skin tag Thick lower lip vermilion Aspiration Short metatarsal Horseshoe kidney Short metacarpal Cat cry Microretrognathia Conspicuously happy disposition High-pitched cry Poor suck Dental malocclusion Anterior open-bite malocclusion High pitched voice Tracheoesophageal fistula Metatarsus adductus Premature graying of hair Esophageal atresia Self-mutilation Delusions Hyperacusis Abnormality of bone mineral density Stenosis of the external auditory canal Postural instability Short attention span Functional respiratory abnormality Auditory hallucinations Facial grimacing Echolalia Diastasis recti Finger syndactyly Recurrent fractures Hyperplasia of midface Abnormality of cardiovascular system morphology Syndactyly Short neck Intrauterine growth retardation Micrognathia Hearing impairment Hyperextensible hand joints Inguinal hernia Morphea Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormal hand morphology Abnormal heart morphology Hyperactivity Small hand Small for gestational age Downturned corners of mouth Oral cleft Joint hyperflexibility Facial asymmetry Severe global developmental delay High axial triradius Elevated serum creatine phosphokinase Autism Feeding difficulties in infancy Abnormality of the kidney Low-set, posteriorly rotated ears Intellectual disability, moderate Cleft lip Aggressive behavior Gastroesophageal reflux Oppositional defiant disorder Optic nerve hypoplasia Overfriendliness Respiratory insufficiency due to muscle weakness Rocker bottom foot Akinesia Congenital contracture Pterygium Adducted thumb EMG: myopathic abnormalities Foot dorsiflexor weakness Multiple joint contractures Hydrops fetalis Large fontanelles Decreased fetal movement Generalized muscle weakness Inability to walk Falls Myopathic facies Mildly elevated creatine phosphokinase Arthrogryposis multiplex congenita Neck flexor weakness Mitochondrial depletion Transient myeloproliferative syndrome Severe hydrops fetalis Calf muscle pseudohypertrophy Multiple pterygia Hand clenching Abnormality of the rib cage Pericardial effusion Type 1 muscle fiber predominance Nemaline bodies Fetal akinesia sequence EMG: neuropathic changes Cystic hygroma Spinal rigidity Bulbar palsy Limb muscle weakness Muscular dystrophy Recurrent infections in infancy and early childhood Overlapping toe Pallor Thin upper lip vermilion Happy demeanor Bruxism Congestive heart failure Poor eye contact Abnormality of the nares Low posterior hairline Cerebellar vermis hypoplasia Hip dysplasia Delayed myelination Tapered finger Unsteady gait Hypermetropia Visual impairment Optic disc pallor Cardiomyopathy Distal muscle weakness Hyporeflexia Abnormality of the eye Apnea Facial palsy Proximal muscle weakness Polyhydramnios Micropenis Areflexia Long eyelashes Myopathy Edema Respiratory insufficiency Broad finger Congenital microcephaly Hypoplasia of the pons Abnormality of visual evoked potentials Abnormality of brain morphology Ankle clonus Overbite Multifocal seizures Depressed nasal bridge Broad nail Marked muscular hypertrophy Pugilistic facies Dislocation of toes Focal clonic seizures Involuntary movements Gait disturbance Status epilepticus Cyanosis Epileptic encephalopathy Hypodontia Abnormality of eye movement Generalized tonic-clonic seizures Progressive pes cavus Camptodactyly of toe Encephalopathy Broad palm Nevus Abnormality of the voice Thick eyebrow Skeletal muscle hypertrophy Broad forehead Hallux valgus Jaundice Hyperplasia of the maxilla Umbilical hernia Osteopenia Eclabion Depressivity Limited elbow movement Brachyturricephaly Atrial septal defect Muscular hypotonia of the trunk Fever Small nail Sparse eyebrow Mandibular prognathia High forehead Coarse facial features Triangular face High myopia Lumbar hyperlordosis Disproportionate tall stature Tetraplegia Megalencephaly Communicating hydrocephalus Severe expressive language delay Thick corpus callosum Long neck Expressive language delay Proptosis Narrow forehead Prominent antihelix Abnormality of the periventricular white matter Shyness Everted upper lip vermilion Acetabular dysplasia Generalized joint laxity Genu recurvatum Overweight Progressive spastic paraplegia Spastic tetraplegia Long nose Decreased muscle mass Hydrocephalus Pointed chin Malar flattening Cerebellar hypoplasia Prominent forehead Congenital hip dislocation Broad thumb Mood swings Gliosis Spastic gait Hypertrophic cardiomyopathy Progressive muscle weakness Lower limb spasticity Psychosis Specific learning disability Sleep disturbance Hoarse voice Short foot Distal amyotrophy Joint hypermobility Dysmetria Lower limb muscle weakness Genu valgum Clonus Spastic paraparesis Hip dislocation Ankle contracture Upper limb spasticity Speech apraxia Abnormality of the thumb Dysuria Upper limb muscle weakness Premature loss of teeth Cerebellar vermis atrophy Slurred speech Scleroderma Metopic synostosis Spastic diplegia Hammertoe Impaired vibratory sensation Emotional lability Abnormality of the hand Abnormality of the foot Hydronephrosis Exotropia Enlarged kidney Hypoplastic iliac wing Capillary hemangioma Spinal cord compression Patellar dislocation Broad neck Poor coordination Tracheomalacia Thin nail Slender finger Melanocytic nevus Metaphyseal widening Hemangioma Accelerated skeletal maturation Coxa valga Broad face Long ear Constipation Wide nose Synophrys Pectus excavatum Midface retrusion Intellectual disability, mild Behavioral abnormality Anteverted nares Skeletal muscle atrophy Hyperopic astigmatism Brachydactyly Everted lower lip vermilion Ventricular hypertrophy Joint contracture of the hand Spinal instability Narrow foot Hamstring contractures Late-onset distal muscle weakness


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